• Gene id: 11143

Gene Summary

• Gene Symbol: KAT7   Gene   UCSC   Ensembl
• Aliases: HBO1, HBOA, MYST2, ZC2HC7
• Gene name: lysine acetyltransferase 7
• Alternate names: histone acetyltransferase KAT7, K(lysine) acetyltransferase 7, MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2, MYST histone acetyltransferase 2, histone acetyltransferase MYST2, histone acetyltransferase binding to ORC1,
• Gene location: 17q21.33 (49788618: 49829095)     Exons: 16     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some gen
• OMIM: 609880

Protein Summary

• Protein general information: O95251  
  • Name: Histone acetyltransferase KAT7 (EC 2.3.1.48) (Histone acetyltransferase binding to ORC1) (Lysine acetyltransferase 7) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2) (MYST 2)
  • Length: 611  
  • Mass: 70,642
• Sequence:

  MPRRKRNAGSSSDGTEDSDFSTDLEHTDSSESDGTSRRSARVTRSSARLSQSSQDSSPVRNLQSFGTEEPAYSTR
  RVTRSQQQPTPVTPKKYPLRQTRSSGSETEQVVDFSDRETKNTADHDESPPRTPTGNAPSSESDIDISSPNVSHD
  ESIAKDMSLKDSGSDLSHRPKRRRFHESYNFNMKCPTPGCNSLGHLTGKHERHFSISGCPLYHNLSADECKVRAQ
  SRDKQIEERMLSHRQDDNNRHATRHQAPTERQLRYKEKVAELRKKRNSGLSKEQKEKYMEHRQTYGNTREPLLEN
  LTSEYDLDLFRRAQARASEDLEKLRLQGQITEGSNMIKTIAFGRYELDTWYHSPYPEEYARLGRLYMCEFCLKYM
  KSQTILRRHMAKCVWKHPPGDEIYRKGSISVFEVDGKKNKIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVMTEAD
  NTGCHLIGYFSKEKNSFLNYNVSCILTMPQYMRQGYGKMLIDFSYLLSKVEEKVGSPERPLSDLGLISYRSYWKE
  VLLRYLHNFQGKEISIKEISQETAVNPVDIVSTLQALQMLKYWKGKHLVLKRQDLIDEWIAKEAKRSNSNKTMDP
  SCLKWTPPKGT

• Structural information:
  • Protein Domains: MYST-type (332-607)
  • Interpro: IPR016181  IPR002717  IPR036388  IPR002515  IPR036060  
  • Prosite: PS51726 PS51802
  • PDB: 5GK9
  • PDBsum: 5GK9
  • DIP: 29697
  • STRING: ENSP00000259021
• Other Databases: GeneCards:  KAT7  Malacards:  KAT7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000123	histone acetyltransferase complex	IDA	cellular component
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0004402	histone acetyltransferase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006260	DNA replication	IDA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0043966	histone H3 acetylation	IDA	biological process
GO:0043981	histone H4-K5 acetylation	IDA	biological process
GO:0043982	histone H4-K8 acetylation	IDA	biological process
GO:0043983	histone H4-K12 acetylation	IDA	biological process
GO:1900182	positive regulation of protein localization to nucleus	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0043984	histone H4-K16 acetylation	IDA	biological process
GO:0000123	histone acetyltransferase complex	IDA	cellular component
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0004402	histone acetyltransferase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006260	DNA replication	IEA	biological process
GO:0006260	DNA replication	IDA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups	IEA	molecular function
GO:0043966	histone H3 acetylation	IDA	biological process
GO:0043981	histone H4-K5 acetylation	IDA	biological process
GO:0043982	histone H4-K8 acetylation	IDA	biological process
GO:0043983	histone H4-K12 acetylation	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:1900182	positive regulation of protein localization to nucleus	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0043984	histone H4-K16 acetylation	IDA	biological process
GO:0000123	histone acetyltransferase complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006260	DNA replication	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0043966	histone H3 acetylation	IDA	biological process
GO:0043981	histone H4-K5 acetylation	IDA	biological process
GO:0043982	histone H4-K8 acetylation	IDA	biological process
GO:0043983	histone H4-K12 acetylation	IDA	biological process
GO:1900182	positive regulation of protein localization to nucleus	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0043984	histone H4-K16 acetylation	IDA	biological process

Diseases

Associated diseases	References
Androgen insensitivity syndrome (AIS)	MIK: 23707616
Androgen insensitivity syndrome	MIK: 23707616
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23707616	Androgen insensitivity syndrome, AIS				Male infertility	SRC-2 HBO1
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq